Figure 1: Long-range polymerase chain reaction (PCR) and next-generation sequencing strategy. | Genetics in Medicine

Figure 1: Long-range polymerase chain reaction (PCR) and next-generation sequencing strategy.

From: Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation

Figure 1

(a) Long-range PCR amplicons for next-generation sequencing of the region of interest on chromosome 3 (EPM2AIP1: NM_014805.3; MLH1: NM_000249.3; LRRFIP2: NM_006309.3) (Integrative Genome Viewer, Broad Institute). (b) Next-generation sequencing data analysis pipeline for structural variant detection: after mapping of reads to chromosome 3, both unmapped and chimeric reads were extracted and submitted to de novo assembly. Contigs were then blasted against hg19 genome reference, enabling detection of insertion or deletion.

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